Clinical phenotypes of Behçet's syndrome in a large cohort of Italian patients: focus on gender differences.

Objective: The aim of this study was to investigate the clinical phenotypes of Italian patients with Behçet's syndrome (BS) according to gender. BS is a rare chronic multisystemic disorder with a wide spectrum of clinical manifestations. Human leucocyte antigen (HLA)-B51, gender, and ethnicity have been suggested as factors that could influence the clinical manifestations in BS patients. To date, few data assessing gender differences in Italian BS patients are available in the literature.Method: We retrospectively evaluated a group of Italian patients seen consecutively at our dedicated tertiary centre from 1 January 2000 to 31 May 2018. Demographics, clinical features during follow-up, and HLA status were obtained from a review of medical records and analysed in male and female groups.Results: In total, 285 [168 male (M) and 117 female (F)] patients were eligible for the study. Males had papulopustolar lesions, posterior uveitis, and deep venous thrombosis more often than females (83.3% M vs 46.2% F, 36.9% M vs 18.8% F, and 8.3% M vs 0.9% F, respectively; p < 0.01). Erythema nodosum (59.0% F vs 41.1% M; p < 0.01) and arthralgia (52.1% F vs 31.6% M; p < 0.01) were more frequent in females. No differences were found in HLA-B51 status (59.2% M vs 59.0% F).Conclusion: In our Italian cohort, BS was slightly more prevalent in males. Some gender-related differences were observed when comparing male and female cohorts. The data also confirmed that BS tends to be less aggressive in Italian female patients.

Red flags for appropriate referral to the gastroenterologist and the rheumatologist of patients with inflammatory bowel disease and spondyloarthritis.

Collaboration between gastroenterologists and rheumatologists is recommended for the correct management of patients with associated spondyloarthritis (SpA) and inflammatory bowel disease (IBD). We aimed to establish the appropriateness of several red flags for a prompt specialist referral. A systematic review of the literature was performed using the GRADE method to describe the prevalence of co-existing IBD-SpA and the diagnostic accuracy of red flags proposed by a steering committee. Then, a consensus among expert gastroenterologists and rheumatologists (10 in the steering committee and 13 in the expert panel) was obtained using the RAND method to confirm the appropriateness of each red flag as 'major' (one sufficient for patient referral) or 'minor' (at least three needed for patient referral) criteria for specialist referral. The review of the literature confirmed the high prevalence of co-existing IBD-SpA. Positive and negative predictive values of red flags were not calculated, given the lack of available data. A consensus among gastroenterology and rheumatology specialists was used to confirm the appropriateness of each red flag. Major criteria to refer patients with SpA to the gastroenterologist included: rectal bleeding, chronic abdominal pain, perianal fistula or abscess, chronic diarrhoea and nocturnal symptoms. Major criteria to refer patients with IBD to the rheumatologist included: chronic low back pain, dactylitis, enthesitis and pain/swelling of peripheral joints. Several major and minor red flags have been identified for the diagnosis of co-existing IBD-SpA. The use of red flags in routine clinical practice may avoid diagnostic delay and reduce clinic overload.

ERAP1 molecular characterization: Identification of a de novo allelic variant.

The novel ERAP1 allelic variant is a missense polymorphism leading to the Arg53Pro substitution.

[A case of sciatica with hypertrophy of the calf]. / Un cas de sciatique avec hypertrophie du mollet.

Hypertrophy of the calf associated with sciatica is rare. In the present case there was hypertrophy, predominantly of type I fibers, which showed a high percentage to the detriment of type II fibers. In the previously reported cases, the type of hypertrophied fibers was variable and pseudomyotonic discharges were inconstantly recorded. The mechanism underlying the hypertrophy is unknown. Inequality of size of muscle fibers could result from proximity of atrophic fibers and those with compensatory hypertrophy. The increased proportion of type I fibers could be the consequence of compensatory hypertrophy induced by lesions of synergic muscles and/or muscle compartments.